OTOONYCHOPERONEAL SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 259780
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000598) Abnormality of the ear 98 / 7739
2
(HPO:0001270) Motor delay 322 / 7739
3
(HPO:0003273) Hip contracture 30 / 7739
4
(HPO:0006380) Knee flexion contracture 56 / 7739
5
(HPO:0006492) Aplasia/Hypoplasia of the fibula 3 / 7739
6
(HPO:0006466) Ankle contracture 17 / 7739
7
(HPO:0001597) Abnormality of the nail 115 / 7739
8
(OMIM) Ear dysplasia 2 / 7739
9
(OMIM) Partial nail aplasia 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Minor craniofacial abnormalities 1 / 7739
12
(OMIM) Immobility of some interphalangeal joints 1 / 7739
13
(OMIM) Contractures of hips, knees, and ankles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leiba et al. (1975) reported a 14-year-old boy, born to consanguineous parents, who had facial dysmorphism and low, poorly developed and posteriorly rotated auricles, broad toes, partial aplasia of the nails, bilateral deformity of the lateral part of ...